Variant report

Variant	rs11224446
Chromosome Location	chr11:100659159-100659160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100651768..100654603-chr11:100655934..100659680,3	K562	blood:
2	chr11:100651768..100655242-chr11:100655934..100659680,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10431109	1.00[AFR][1000 genomes]
rs10488786	1.00[AFR][1000 genomes]
rs11224367	1.00[ASW][hapmap]
rs11224368	1.00[ASW][hapmap]
rs11224400	1.00[AFR][1000 genomes]
rs11224402	1.00[AFR][1000 genomes]
rs11224407	1.00[AFR][1000 genomes]
rs11224408	1.00[AFR][1000 genomes]
rs11224411	1.00[AFR][1000 genomes]
rs11224430	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11224436	0.94[ASN][1000 genomes]
rs11224442	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11224443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11224445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224464	0.87[ASN][1000 genomes]
rs11224467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224472	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224473	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224493	1.00[AFR][1000 genomes]
rs11224494	1.00[AFR][1000 genomes]
rs11224495	1.00[AFR][1000 genomes]
rs12221887	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12223958	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12225108	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12226782	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1502283	1.00[AFR][1000 genomes]
rs17095481	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17652307	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2897755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs517349	1.00[AFR][1000 genomes]
rs581773	1.00[AFR][1000 genomes]
rs58232316	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59240226	0.95[ASN][1000 genomes]
rs60799929	0.95[ASN][1000 genomes]
rs61890769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890783	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890784	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61890786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890788	0.87[ASN][1000 genomes]
rs61890789	0.87[ASN][1000 genomes]
rs61890806	1.00[AFR][1000 genomes]
rs61890815	1.00[AFR][1000 genomes]
rs61890817	1.00[AFR][1000 genomes]
rs61890819	1.00[AFR][1000 genomes]
rs61890820	1.00[AFR][1000 genomes]
rs61890821	1.00[AFR][1000 genomes]
rs61910470	1.00[AFR][1000 genomes]
rs61910471	1.00[AFR][1000 genomes]
rs61910473	1.00[AFR][1000 genomes]
rs61910474	1.00[AFR][1000 genomes]
rs61910475	1.00[AFR][1000 genomes]
rs61910477	1.00[AFR][1000 genomes]
rs61910479	1.00[AFR][1000 genomes]
rs61910503	0.82[AMR][1000 genomes]
rs61910504	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs679012	1.00[AFR][1000 genomes]
rs7117419	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100643200-100660000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:100649800-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:100652000-100659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:100653200-100660000	Weak transcription	NHEK	skin
7	chr11:100653400-100660200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:100654400-100671200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:100656000-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:100656400-100660000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:100656400-100660000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:100656400-100660000	Weak transcription	Left Ventricle	heart
13	chr11:100656400-100660200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:100656400-100660200	Weak transcription	Gastric	stomach
15	chr11:100656400-100660200	Weak transcription	HSMM	muscle
16	chr11:100656400-100661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:100656600-100659600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:100656600-100660000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:100656600-100660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:100656600-100660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:100656600-100660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:100656600-100660000	Weak transcription	Right Atrium	heart
23	chr11:100656600-100660000	Weak transcription	K562	blood
24	chr11:100656600-100661200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:100656600-100662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:100656600-100662800	Weak transcription	Right Ventricle	heart
27	chr11:100656600-100679600	Weak transcription	Fetal Lung	lung
28	chr11:100656800-100659800	Weak transcription	A549	lung
29	chr11:100656800-100660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:100656800-100660200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:100656800-100660400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:100656800-100660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:100656800-100661800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:100656800-100668800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:100657000-100660200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:100657000-100661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:100657000-100675600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:100658400-100659400	Weak transcription	Stomach Mucosa	stomach
39	chr11:100658600-100659400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:100658800-100659200	Weak transcription	Fetal Heart	heart
41	chr11:100658800-100659800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr11:100658800-100661000	Enhancers	Liver	Liver

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